Canonical Allele Identifier: CA2522417000
Gene: PYGM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751558C>T , CM000673.2:g.64751558C>T GRCh38
NC_000011.9:g.64519030C>T , CM000673.1:g.64519030C>T GRCh37
NC_000011.8:g.64275606C>T NCBI36
NG_013018.1:g.14158G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.1827+39G>A MANE Select ENSP00000164139.3:n.1827+39G>A
ENST00000164139.3:c.1827+39G>A ENSP00000164139.3:n.1827+39G>A
ENST00000377432.7:c.1563+39G>A ENSP00000366650.3:n.1563+39G>A
ENST00000462303.1:n.151+39G>A
NM_001164716.1:c.1563+39G>A NP_001158188.1:n.1563+39G>A
NM_005609.2:c.1827+39G>A NP_005600.1:n.1827+39G>A
NM_005609.3:c.1827+39G>A NP_005600.1:n.1827+39G>A
NM_005609.4:c.1827+39G>A MANE Select NP_005600.1:n.1827+39G>A
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